Patient_ID
|
Age (Yrs)
|
Gender
|
Race
|
FV:C(%)
|
FV:C (IU/dl)
|
FV:Ag(%)
|
FV:Ag (IU/dl)
|
Inheritance
|
Other Variants
|
Severity
|
Comments
|
Reference
|
183 |
NA |
M |
NA |
67 |
NA |
NA |
NA |
Heterozygous |
c.1426C>T (p.Gln476*) |
Asymptomatic |
pseudo-homozygous FV Leiden: one thrombotic episode
|
Delev et al 2009
|
203 |
NA |
F |
NA |
91 |
NA |
NA |
NA |
Homozygous |
|
Asymptomatic |
NA
|
Castoldi et al 2004
|
204 |
NA |
M |
NA |
121 |
NA |
NA |
NA |
Homozygous |
|
Asymptomatic |
Thrombotic episodes
|
Castoldi et al 2004
|
205 |
NA |
F |
NA |
<1 |
NA |
<1 |
NA |
Homozygous |
c.3481C>T (p.Arg1161*) |
Severe |
homozygous for FV Leiden, but nonsense variant in cis rescues
|
van Wijk et al 2001B
|
206 |
NA |
M |
NA |
<1 |
NA |
<1 |
NA |
Homozygous |
c.3481C>T (p.Arg1161*) |
Severe |
homozygous for FV Leiden, but nonsense variant in cis rescues
|
van Wijk et al 2001B
|
207 |
NA |
F |
NA |
65 |
NA |
53 |
NA |
Heterozygous |
c.6179G>A (p.Gly2060Asp) |
Asymptomatic |
retinal vein thrombosis
|
Asselta et al 2004
|
208 |
NA |
F |
NA |
50 |
NA |
39 |
NA |
Heterozygous |
c.6179G>A (p.Gly2060Asp) |
Asymptomatic |
NA
|
Asselta et al 2004
|
209 |
NA |
F |
NA |
47 |
NA |
46 |
NA |
Heterozygous |
c.6179G>A (p.Gly2060Asp) |
Asymptomatic |
NA
|
Asselta et al 2004
|
210 |
NA |
N |
NA |
41 |
NA |
46 |
NA |
Heterozygous |
c.5176C>T (p.Arg1726Trp) |
Asymptomatic |
epistaxis
|
Calzavarini et al 2013
|
211 |
NA |
F |
NA |
47 |
NA |
53 |
NA |
Heterozygous |
c.3980A>G (p.His1327Arg) |
Asymptomatic |
history of venous thrombosis; pseudohomozygous APC resistance
|
Castaman et al 1997
|
212 |
NA |
M |
NA |
45 |
NA |
52 |
NA |
Heterozygous |
c.3980A>G (p.His1327Arg) |
Asymptomatic |
stroke aged 41; pseudohomozygous APC resistance
|
Castaman et al 1997
|
213 |
NA |
F |
NA |
98 |
NA |
96 |
NA |
Heterozygous |
|
Asymptomatic |
DVT aged 55
|
Castaman et al 1997
|
214 |
NA |
M |
NA |
50 |
NA |
48 |
NA |
Heterozygous |
c.3980A>G (p.His1327Arg) |
Asymptomatic |
NA
|
Castaman et al 1997
|
215 |
NA |
F |
NA |
42 |
NA |
54 |
NA |
Heterozygous |
c.3615_3616dupTC (p.Pro1206Leufs*47) |
Asymptomatic |
pseudo-homozygous APC resistance
|
Castoldi et al 1998
|
216 |
NA |
M |
NA |
50 |
NA |
50 |
NA |
Heterozygous |
c.5189A>G (p.Tyr1730Cys) |
Asymptomatic |
pseudohomozygous FV Leiden; right leg DVT
|
Castoldi et al 2000A
|
217 |
NA |
M |
NA |
50 |
NA |
50 |
NA |
Heterozygous |
c.5189A>G (p.Tyr1730Cys) |
Asymptomatic |
recurrent thromboses; pseudohomozygous APC resistance
|
Castoldi et al 2001
|
218 |
NA |
F |
NA |
45 |
NA |
40 |
NA |
Heterozygous |
c.6523delG (p.Asp2175Thrfs*14) |
Asymptomatic |
pseudohomozygous APC resistance
|
Dargaud et al 2003
|
219 |
NA |
F |
NA |
50 |
NA |
48 |
NA |
Heterozygous |
c.5592delT (p.Leu1864Cysfs*10) |
Asymptomatic |
NA
|
Dargaud et al 2003
|
220 |
NA |
M |
NA |
67 |
NA |
NA |
NA |
Heterozygous |
c.1426C>T (p.Gln476*) |
Asymptomatic |
pseudo-homozygous FV Leiden: one thrombotic episode
|
Delev et al 2009
|
221 |
NA |
M |
NA |
72 |
NA |
73 |
NA |
Heterozygous |
c.5419G>A (p.Ala1807Thr) |
Asymptomatic |
Previous thrombotic episodes
|
Guasch et al 1997
|
222 |
NA |
M |
NA |
52 |
NA |
NA |
NA |
Heterozygous |
c.2218C>T (p.Arg740*) |
Asymptomatic |
pseudohomozygous APC resistance; three DVTs
|
Lunghi et al 1998
|
223 |
NA |
F |
NA |
110 |
NA |
NA |
NA |
Heterozygous |
|
Asymptomatic |
one thrombophlebitic episode
|
Lunghi et al 1998
|
224 |
NA |
M |
NA |
55 |
NA |
54 |
NA |
Heterozygous |
c.4906G>A (p.Glu1636Lys) |
Asymptomatic |
DVT
|
Lunghi et al 2005B
|
225 |
NA |
F |
NA |
57 |
NA |
NA |
NA |
Heterozygous |
c.4906G>A (p.Glu1636Lys) |
Asymptomatic |
recurrent phlebitis
|
Lunghi et al 2005B
|
226 |
NA |
M |
NA |
20 |
NA |
NA |
NA |
Heterozygous |
c.4906G>A (p.Glu1636Lys) |
Asymptomatic |
carotid thrombosis and recurrent DVT
|
Lunghi et al 2005B
|
227 |
NA |
F |
NA |
65 |
NA |
43 |
NA |
Heterozygous |
c.5236G>A (p.Gly1746Ser) |
Asymptomatic |
normal APCR ratio despite heterozygous FV Leiden
|
Pruller et al 2013
|
228 |
NA |
M |
NA |
72 |
NA |
37 |
NA |
Heterozygous |
c.5236G>A (p.Gly1746Ser) |
Asymptomatic |
normal APCR ratio even with heterozygous FV Leiden
|
Pruller et al 2013
|
229 |
NA |
F |
NA |
54 |
NA |
30 |
NA |
Heterozygous |
c.5236G>A (p.Gly1746Ser) |
Asymptomatic |
normal APCR ratio even though heterozygous FV Leiden
|
Pruller et al 2013
|
230 |
NA |
F |
NA |
76 |
NA |
52 |
NA |
Heterozygous |
c.5236G>A (p.Gly1746Ser) |
Asymptomatic |
normal APCR ratio even though heterozygous FV Leiden
|
Pruller et al 2013
|
231 |
NA |
N |
NA |
61 |
NA |
51 |
NA |
Heterozygous |
c.6212delG (p.Gly2071Valfs*7) |
Asymptomatic |
VTE
|
Simioni et al 2005
|
232 |
NA |
N |
NA |
56 |
NA |
59 |
NA |
Heterozygous |
c.6419G>A (p.Gly2140Asp) |
Asymptomatic |
VTE
|
Simioni et al 2005
|
233 |
NA |
N |
NA |
50 |
NA |
60 |
NA |
Heterozygous |
c.3615_3616dupTC (p.Pro1206Leufs*47) |
Asymptomatic |
VTE
|
Simioni et al 2005
|
234 |
NA |
N |
NA |
45 |
NA |
44 |
NA |
Heterozygous |
c.5189A>G (p.Tyr1730Cys) |
Asymptomatic |
VTE
|
Simioni et al 2005
|
235 |
NA |
N |
NA |
51 |
NA |
46 |
NA |
Heterozygous |
c.5764C>T (p.Gln1922*) |
Asymptomatic |
VTE
|
Simioni et al 2005
|
236 |
NA |
M |
NA |
55 |
NA |
NA |
NA |
Heterozygous |
c.4699_4702dupATTG (p.Ala1568Aspfs*21) |
Asymptomatic |
pseudohomozygous FV Leiden: thrombophilia
|
Zehnder et al 1999A see erratum & Mo
|
237 |
NA |
F |
NA |
100 |
NA |
NA |
NA |
Heterozygous |
|
Asymptomatic |
NA
|
Zehnder et al 1999A see erratum & Mo
|
238 |
NA |
N |
NA |
NA |
NA |
NA |
NA |
Both |
|
NA |
first reports of prothrombotic F5 Leiden variant
|
Bertina et al 1994
|
296 |
NA |
M |
NA |
52 |
NA |
NA |
NA |
Heterozygous |
c.2218C>T (p.Arg740*) |
Asymptomatic |
pseudohomozygous APC resistance: thrombotic episodes in lower limbs; three DVTs;
|
Lunghi et al 1998
|
434 |
NA |
F |
NA |
<1 |
NA |
<1 |
NA |
Homozygous |
c.3481C>T (p.Arg1161*) |
Severe |
NA
|
van Wijk et al 2001B
|
435 |
NA |
M |
NA |
<1 |
NA |
<1 |
NA |
Homozygous |
c.3481C>T (p.Arg1161*) |
Severe |
NA
|
van Wijk et al 2001B
|
445 |
NA |
F |
NA |
42 |
NA |
54 |
NA |
Heterozygous |
c.3615_3616dupTC (p.Pro1206Leufs*47) |
Asymptomatic |
pseudo-homozygous APC resistance
|
Castoldi et al 1998
|
446 |
NA |
N |
NA |
50 |
NA |
60 |
NA |
Heterozygous |
c.3615_3616dupTC (p.Pro1206Leufs*47) |
Asymptomatic |
VTE
|
Simioni et al 2005
|
478 |
NA |
M |
NA |
45 |
NA |
52 |
NA |
Heterozygous |
c.3980A>G (p.His1327Arg) |
Asymptomatic |
stroke aged 41; pseudohomozygous APC resistance
|
Castaman et al 1997
|
480 |
NA |
M |
NA |
50 |
NA |
48 |
NA |
Heterozygous |
c.3980A>G (p.His1327Arg) |
Asymptomatic |
pseudohomozygous APC resistance
|
Castaman et al 1997
|
481 |
NA |
F |
NA |
47 |
NA |
53 |
NA |
Heterozygous |
c.3980A>G (p.His1327Arg) |
Asymptomatic |
pseudohomozygous APC resistance
|
Castaman et al 1997
|
528 |
NA |
M |
NA |
55 |
NA |
NA |
NA |
Heterozygous |
c.4699_4702dupATTG (p.Ala1568Aspfs*21) |
Asymptomatic |
pseudohomozygous FV Leiden; thrombotic episodes
|
Zehnder et al 1999A see erratum & Mo
|
546 |
NA |
M |
NA |
55 |
NA |
54 |
NA |
Heterozygous |
c.4906G>A (p.Glu1636Lys) |
Asymptomatic |
DVT
|
Lunghi et al 2005B
|
547 |
NA |
F |
NA |
57 |
NA |
NA |
NA |
Heterozygous |
c.4906G>A (p.Glu1636Lys) |
Asymptomatic |
phlebitis
|
Lunghi et al 2005B
|
548 |
NA |
M |
NA |
20 |
NA |
NA |
NA |
Heterozygous |
c.4906G>A (p.Glu1636Lys) |
Asymptomatic |
recurrent DVT and occlusive carotid thrombosis
|
Lunghi et al 2005B
|
571 |
NA |
N |
NA |
41 |
NA |
46 |
NA |
Heterozygous |
c.5176C>T (p.Arg1726Trp) |
Asymptomatic |
epistaxis
|
Calzavarini et al 2013
|
583 |
NA |
M |
NA |
50 |
NA |
50 |
NA |
Heterozygous |
c.5189A>G (p.Tyr1730Cys) |
Asymptomatic |
pseudohomozygous FV Leiden; right leg DVT
|
Castoldi et al 2000A
|
591 |
NA |
M |
NA |
50 |
NA |
50 |
NA |
Heterozygous |
c.5189A>G (p.Tyr1730Cys) |
Asymptomatic |
recurrent thromboses; pseudohomozygous APC resistance
|
Castoldi et al 2001
|
594 |
NA |
N |
NA |
45 |
NA |
44 |
NA |
Heterozygous |
c.5189A>G (p.Tyr1730Cys) |
Asymptomatic |
VTE
|
Simioni et al 2005
|
605 |
NA |
F |
NA |
65 |
NA |
43 |
NA |
Heterozygous |
c.5236G>A (p.Gly1746Ser) |
Asymptomatic |
normal APCR ratio despite heterozygous FV Leiden
|
Pruller et al 2013
|
606 |
NA |
M |
NA |
72 |
NA |
37 |
NA |
Heterozygous |
c.5236G>A (p.Gly1746Ser) |
Asymptomatic |
normal APCR ratio despite heterozygous FV Leiden
|
Pruller et al 2013
|
607 |
NA |
F |
NA |
54 |
NA |
30 |
NA |
Heterozygous |
c.5236G>A (p.Gly1746Ser) |
Asymptomatic |
normal APCR ratio despite heterozygous FV Leiden
|
Pruller et al 2013
|
608 |
NA |
F |
NA |
76 |
NA |
52 |
NA |
Heterozygous |
c.5236G>A (p.Gly1746Ser) |
Asymptomatic |
normal APCR ratio despite heterozygous FV Leiden
|
Pruller et al 2013
|
631 |
NA |
M |
NA |
72 |
NA |
73 |
NA |
Heterozygous |
c.5419G>A (p.Ala1807Thr) |
Asymptomatic |
history of thrombosis
|
Guasch et al 1997
|
659 |
NA |
F |
NA |
50 |
NA |
48 |
NA |
Heterozygous |
c.5592delT (p.Leu1864Cysfs*10) |
Asymptomatic |
in cis rescue from APC resistance; superficial thrombosis
|
Dargaud et al 2003
|
676 |
NA |
N |
NA |
51 |
NA |
46 |
NA |
Heterozygous |
c.5764C>T (p.Gln1922*) |
Asymptomatic |
VTE
|
Simioni et al 2005
|
727 |
NA |
F |
NA |
65 |
NA |
53 |
NA |
Heterozygous |
c.6179G>A (p.Gly2060Asp) |
Asymptomatic |
retinal vein thrombosis
|
Asselta et al 2004
|
728 |
NA |
F |
NA |
50 |
NA |
39 |
NA |
Heterozygous |
c.6179G>A (p.Gly2060Asp) |
Asymptomatic |
NA
|
Asselta et al 2004
|
729 |
NA |
F |
NA |
47 |
NA |
46 |
NA |
Heterozygous |
c.6179G>A (p.Gly2060Asp) |
Asymptomatic |
NA
|
Asselta et al 2004
|
734 |
NA |
N |
NA |
61 |
NA |
51 |
NA |
Heterozygous |
c.6212delG (p.Gly2071Valfs*7) |
Asymptomatic |
VTE
|
Simioni et al 2005
|
769 |
NA |
N |
NA |
56 |
NA |
59 |
NA |
Heterozygous |
c.6419G>A (p.Gly2140Asp) |
Asymptomatic |
VTE
|
Simioni et al 2005
|
780 |
NA |
F |
NA |
45 |
NA |
40 |
NA |
Heterozygous |
c.6523delG (p.Asp2175Thrfs*14) |
Asymptomatic |
pseudohomozygous APC resistance
|
Dargaud et al 2003
|